Varaico: Literature-Extracted Genetic Variants

WWP2

114 papers

RefSeq Summary

This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple proce...

Pfam Domains

WWaa 302–331UCSCWW domain

WWaa 332–361UCSCWW domain

WWaa 407–435UCSCWW domain

WWaa 446–475UCSCWW domain

HECTaa 565–870UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

WW domain containing E3 ubiquitin protein ligase 2

HGNC Alias Symbol

AIP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001270454.2

p.W358L

c.1073G>T

Surrounding Variants

1 paper

NM_001270454.2

p.T356A

c.1066A>G

1 paper

NM_001270454.2

p.V366fs

c.1096_1097fs

1 paper

NM_001270454.2

p.Y369F

c.1106A>T

1 paper

NM_001270454.2

p.Q373R

c.1118A>G

1 paper

NM_001270454.2

p.W336G

c.1006T>G

1 paper

NM_001270454.2

p.Y392F

c.1175A>T

1 paper

NM_001270454.2

p.H401R

c.1202A>G

1 paper

NM_001270454.2

p.W411G

c.1231T>G

1 paper

NM_001270454.2

p.P333L

c.998C>T

1 paper

NM_001270454.2

p.R315C

c.943C>T

1 paper

NM_001270454.2

p.R309*

c.925C>T

1 paper

NM_001270454.2

p.E307*

c.919G>T